INT335731

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Context Info
Confidence 0.73
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 16
Disease Relevance 12.21
Pain Relevance 0.18

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

lipid binding (Vcp) cytosol (Vcp) transport (Vcp)
endoplasmic reticulum (Vcp) ATPase activity (Vcp) nucleus (Vcp)
Anatomy Link Frequency
muscle 4
quadriceps 1
embryos 1
liver 1
brain 1
Vcp (Mus musculus)
Vcp - R155H (3)
Pain Link Frequency Relevance Heat
Hippocampus 64 99.84 Very High Very High Very High
Neurotransmitter 16 66.96 Quite High
imagery 48 58.80 Quite High
Eae 80 42.60 Quite Low
cytokine 32 5.00 Very Low Very Low Very Low
anesthesia 16 5.00 Very Low Very Low Very Low
isoflurane 16 5.00 Very Low Very Low Very Low
Pain 16 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Apoptosis 384 100.00 Very High Very High Very High
Death 16 100.00 Very High Very High Very High
Disease 432 99.96 Very High Very High Very High
Targeted Disruption 1520 99.88 Very High Very High Very High
Embryonic Lethality 16 99.00 Very High Very High Very High
Muscle Weakness 272 98.86 Very High Very High Very High
Convulsion 208 98.12 Very High Very High Very High
Muscle Disease 160 94.00 High High
Congenital Anomalies 64 92.56 High High
Injury 32 91.76 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Since seizures are not reported in human IBMPFD patients, these findings combined with the observation that VCP is abundantly expressed in hippocampus [60] propose an important role for VCP in the hippocampal region.
Gene_expression (expressed) of VCP in hippocampus associated with convulsion and hippocampus
1) Confidence 0.73 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 1.59 Pain Relevance 0.15
Additionally, Custer et al. have generated transgenic mice expressing VCP/p97 with the R155H and A232E mutations shown to develop pathology of the muscle, bone, and brain exhitibing similar characteristics seen in humans with IBMPFD [32].
Gene_expression (expressing) of VCP in muscle associated with targeted disruption
2) Confidence 0.73 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.87 Pain Relevance 0
The finding that inhibition of VCP expression promotes apoptosis [44] suggests that intact VCP is indispensable for normal development and cell survival.
Gene_expression (expression) of VCP associated with apoptosis
3) Confidence 0.73 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.98 Pain Relevance 0
We decided to generate a knock-in model, since these mice express the mouse VCP gene at endogenous level and are therefore believed to represent a better model to study the pathology of the human disease and to develop targeted molecular treatment.
Gene_expression (express) of VCP gene associated with targeted disruption and disease
4) Confidence 0.73 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.86 Pain Relevance 0
Targeted homozygous deletion of VCP by Cre-loxP technology was reported to result in early embryonic lethality [30] suggesting an important role for the intact VCP expression in the development of mouse embryos.
Gene_expression (expression) of VCP in embryos associated with embryonic lethality
5) Confidence 0.73 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.38 Pain Relevance 0
To be able to elucidate tissue and cellular pathology of IBMPFD, we have generated a knock-in mouse model that expresses the most common VCP disease mutation R155H at endogenous level.
Gene_expression (expresses) of VCP associated with targeted disruption and disease
6) Confidence 0.63 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.98 Pain Relevance 0
Our mice express the R155H mutant VCP gene at an endogenous level compared to previous models which overexpresses the mutant allele.
Gene_expression (express) of R155H mutant VCP gene (R155H)
7) Confidence 0.63 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 1.18 Pain Relevance 0.03
Progressive deterioration of muscle strength of knock-in mice mirrors the development of late onset muscle weakness reported in patients [1], [3], [45] and transgenic mice expressing R155H VCP [31].
Gene_expression (expressing) of R155H VCP (R155H) in muscle associated with targeted disruption and muscle weakness
8) Confidence 0.63 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 1.04 Pain Relevance 0
Transgenic mice overexpressing R155H VCP under a muscle-specific promoter, reported by Weihl et al (2006) [31], demonstrated muscle weakness, and slit-like vacuoles.
Gene_expression (overexpressing) of R155H VCP (R155H) in muscle associated with targeted disruption and muscle weakness
9) Confidence 0.63 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.87 Pain Relevance 0
Mutations in the VCP gene have been shown to trigger cell death with apoptotic features, whereas expression of wild-type protein has been suggested to have an anti-apoptotic effect [34], [35], [36].
Gene_expression (expression) of VCP gene associated with apoptosis and death
10) Confidence 0.63 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.92 Pain Relevance 0
VCP expression by Q-RT-PCR analyses demonstrated no statistically significant differences between wild type (AVG ?
Gene_expression (expression) of VCP
11) Confidence 0.56 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.34 Pain Relevance 0
These findings suggested that mutated VCP may also cause apoptosis in mouse muscle expressing the R155H disease mutation.
Gene_expression (expressing) of VCP in muscle associated with disease and apoptosis
12) Confidence 0.55 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 1.06 Pain Relevance 0
Western blot analysis of wild type and mutant quadriceps, brain, heart and liver tissues revealed similar VCP expression levels (Figure 1D,E).
Gene_expression (expression) of VCP in liver
13) Confidence 0.49 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.28 Pain Relevance 0
Western blot analysis of wild type and mutant quadriceps, brain, heart and liver tissues revealed similar VCP expression levels (Figure 1D,E).
Gene_expression (expression) of VCP in quadriceps
14) Confidence 0.17 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.28 Pain Relevance 0
Western blot analysis of wild type and mutant quadriceps, brain, heart and liver tissues revealed similar VCP expression levels (Figure 1D,E).
Gene_expression (expression) of VCP in heart
15) Confidence 0.17 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.28 Pain Relevance 0
Western blot analysis of wild type and mutant quadriceps, brain, heart and liver tissues revealed similar VCP expression levels (Figure 1D,E).
Gene_expression (expression) of VCP in brain
16) Confidence 0.17 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.28 Pain Relevance 0

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